Ophthalmoplegia due to mitochondrial DNA disease: The need for genetic diagnosis
We describe a patient with chronic progressive external ophthalmoplegia (CPEO) who underwent muscle biopsy for suspected mitochondrial disease. In spite of normal histocytochemical cytochrome c oxidase (COX) activity and respiratory chain enzyme measurements in muscle, subsequent molecular genetic a...
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| Veröffentlicht in: | Muscle & nerve 2005-07, Vol.32 (1), p.104-107 |
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| container_title | Muscle & nerve |
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| creator | Schaefer, Andrew M. Blakely, Emma L. Griffiths, Philip G. Turnbull, Douglass M. Taylor, Robert W. |
| description | We describe a patient with chronic progressive external ophthalmoplegia (CPEO) who underwent muscle biopsy for suspected mitochondrial disease. In spite of normal histocytochemical cytochrome c oxidase (COX) activity and respiratory chain enzyme measurements in muscle, subsequent molecular genetic analysis revealed the presence of a single, large‐scale deletion of mitochondrial DNA (mtDNA). The case serves to illustrate the importance of pursuing the proposed mitochondrial genetic abnormality, even in patients with normal biopsy findings. Muscle Nerve, 2005 |
| doi_str_mv | 10.1002/mus.20319 |
| format | Article |
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In spite of normal histocytochemical cytochrome c oxidase (COX) activity and respiratory chain enzyme measurements in muscle, subsequent molecular genetic analysis revealed the presence of a single, large‐scale deletion of mitochondrial DNA (mtDNA). The case serves to illustrate the importance of pursuing the proposed mitochondrial genetic abnormality, even in patients with normal biopsy findings. Muscle Nerve, 2005</description><subject>Adult</subject><subject>Biological and medical sciences</subject><subject>Biopsy</subject><subject>chronic progressive external ophthalmoplegia</subject><subject>cytochrome c oxidase</subject><subject>Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases</subject><subject>deletion</subject><subject>DNA, Mitochondrial - genetics</subject><subject>Electron Transport</subject><subject>Electron Transport Complex IV - metabolism</subject><subject>Female</subject><subject>Genetic Testing</subject><subject>histochemistry</subject><subject>Histocytochemistry</subject><subject>Humans</subject><subject>Medical sciences</subject><subject>Mitochondrial Diseases - genetics</subject><subject>Mitochondrial Diseases - pathology</subject><subject>mitochondrial DNA</subject><subject>Neurology</subject><subject>Ophthalmoplegia, Chronic Progressive External - genetics</subject><subject>Ophthalmoplegia, Chronic Progressive External - pathology</subject><issn>0148-639X</issn><issn>1097-4598</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2005</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNp10E1v1DAQBmALgehSOPAHUC4gcUhrx-svblU_KUtbia3ozZrYk11DEi92Iui_J7BbeuI0h3lmRvMS8prRA0ZpddiN-aCinJknZMaoUeVcGP2UzCib61Jyc7dHXuT8jVLKtFTPyR4Tyght-IzcXG_WwxraLm5aXAUo_IjFEIsuDNGtY-9TgLY4uToqfMgIGT8UyzUWPaIvmpiKFfY4BDd1YdXHHPJL8qyBNuOrXd0nt2eny-OLcnF9_vH4aFE6bpgpFXg0SMGArn2lmFLKe1nVlaMClUFBed1UcyUkb1zjnRa1A5QNlSCg5p7vk3fbvZsUf4yYB9uF7LBtocc4ZiuVkbTSfILvt9ClmHPCxm5S6CDdW0btn_jsFJ_9G99k3-yWjnWH_lHu8prA2x2A7KBtEvQu5EcntdaV0ZM73LqfocX7_1-0n2-_PJwutxMhD_jr3wSk79MrXAn79erc6rObT3fLi0u74L8BmaeWyA</recordid><startdate>200507</startdate><enddate>200507</enddate><creator>Schaefer, Andrew M.</creator><creator>Blakely, Emma L.</creator><creator>Griffiths, Philip G.</creator><creator>Turnbull, Douglass M.</creator><creator>Taylor, Robert W.</creator><general>Wiley Subscription Services, Inc., A Wiley Company</general><general>Wiley</general><scope>BSCLL</scope><scope>IQODW</scope><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>7X8</scope></search><sort><creationdate>200507</creationdate><title>Ophthalmoplegia due to mitochondrial DNA disease: The need for genetic diagnosis</title><author>Schaefer, Andrew M. ; Blakely, Emma L. ; Griffiths, Philip G. ; Turnbull, Douglass M. ; Taylor, Robert W.</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c3919-7ade9e0a9a8bd271777dd62b2c05e79e503bf247563fcfdc85bcae6f06a5ab3d3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2005</creationdate><topic>Adult</topic><topic>Biological and medical sciences</topic><topic>Biopsy</topic><topic>chronic progressive external ophthalmoplegia</topic><topic>cytochrome c oxidase</topic><topic>Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases</topic><topic>deletion</topic><topic>DNA, Mitochondrial - genetics</topic><topic>Electron Transport</topic><topic>Electron Transport Complex IV - metabolism</topic><topic>Female</topic><topic>Genetic Testing</topic><topic>histochemistry</topic><topic>Histocytochemistry</topic><topic>Humans</topic><topic>Medical sciences</topic><topic>Mitochondrial Diseases - genetics</topic><topic>Mitochondrial Diseases - pathology</topic><topic>mitochondrial DNA</topic><topic>Neurology</topic><topic>Ophthalmoplegia, Chronic Progressive External - genetics</topic><topic>Ophthalmoplegia, Chronic Progressive External - pathology</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Schaefer, Andrew M.</creatorcontrib><creatorcontrib>Blakely, Emma L.</creatorcontrib><creatorcontrib>Griffiths, Philip G.</creatorcontrib><creatorcontrib>Turnbull, Douglass M.</creatorcontrib><creatorcontrib>Taylor, Robert W.</creatorcontrib><collection>Istex</collection><collection>Pascal-Francis</collection><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>MEDLINE - Academic</collection><jtitle>Muscle & nerve</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Schaefer, Andrew M.</au><au>Blakely, Emma L.</au><au>Griffiths, Philip G.</au><au>Turnbull, Douglass M.</au><au>Taylor, Robert W.</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Ophthalmoplegia due to mitochondrial DNA disease: The need for genetic diagnosis</atitle><jtitle>Muscle & nerve</jtitle><addtitle>Muscle Nerve</addtitle><date>2005-07</date><risdate>2005</risdate><volume>32</volume><issue>1</issue><spage>104</spage><epage>107</epage><pages>104-107</pages><issn>0148-639X</issn><eissn>1097-4598</eissn><coden>MUNEDE</coden><abstract>We describe a patient with chronic progressive external ophthalmoplegia (CPEO) who underwent muscle biopsy for suspected mitochondrial disease. In spite of normal histocytochemical cytochrome c oxidase (COX) activity and respiratory chain enzyme measurements in muscle, subsequent molecular genetic analysis revealed the presence of a single, large‐scale deletion of mitochondrial DNA (mtDNA). The case serves to illustrate the importance of pursuing the proposed mitochondrial genetic abnormality, even in patients with normal biopsy findings. Muscle Nerve, 2005</abstract><cop>Hoboken</cop><pub>Wiley Subscription Services, Inc., A Wiley Company</pub><pmid>15795893</pmid><doi>10.1002/mus.20319</doi><tpages>4</tpages></addata></record> |
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| subjects | Adult Biological and medical sciences Biopsy chronic progressive external ophthalmoplegia cytochrome c oxidase Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases deletion DNA, Mitochondrial - genetics Electron Transport Electron Transport Complex IV - metabolism Female Genetic Testing histochemistry Histocytochemistry Humans Medical sciences Mitochondrial Diseases - genetics Mitochondrial Diseases - pathology mitochondrial DNA Neurology Ophthalmoplegia, Chronic Progressive External - genetics Ophthalmoplegia, Chronic Progressive External - pathology |
| title | Ophthalmoplegia due to mitochondrial DNA disease: The need for genetic diagnosis |
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